A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233492



Internal ID22372772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3964563..4020505hg38UCSC Ensembl
Outerchr19:3964561..4020503hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383108
hg193108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4088n152
Supporting Variantsnssv14263036, nssv14263040, nssv14263038, nssv14263039, nssv14263037, nssv14263034, nssv14263033, nssv14263035, nssv14263032
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAPK3, EEF2, PIAS4, SNORD37
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233492
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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